A novel de novo mutation in DYNC1H1 gene underlying malformation of cortical development and cataract.

摘要: Mutations in DYNC1H1, the gene encoding largest cytoplasmic dynein, have been associated with a wide spectrum of neurodegenerative disorders. In this study, we describe child whom novel de novo likely pathogenic variant motor domain DYCN1H1 was identified through whole exome sequencing. The affected presented severe neurological symptoms and more extensive cortical malformations compared to previously reported cases mutations gene, including diffuse pachygyria-lissencephaly bilateral symmetric subcortical gray matter heterotopia. A distinct aspect phenotype is presence cataract infancy. So far, only acquired adulthood has described disorder patient much milder phenotype. These findings could extend defective DYNC1H1 suggest possible important role human ocular development.